A160V (p.Ala160Val) variant of BACH2 (Q9BYV9)
A160V (p.Ala160Val) in BACH2 (Q9BYV9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
A160V (p.Ala160Val) variant details
- p.Ala160Val
- ExAC rs753062024
- TOPMed rs753062024
- gnomAD rs753062024
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.03
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)